Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: CXCR2
Comment on list classification: As reviewed by Hannah Knight, there are five unrelated cases with biallelic CXCR2 variants. Hence, this gene can be promoted to green rating in the next GMS review.Created: 12 Oct 2023, 10:46 a.m. | Last Modified: 12 Oct 2023, 10:46 a.m.
Panel Version: 4.40
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?WHIM syndrome 2, OMIM:619407
Five patients reported with biallelic variants. As previously mentioned, 2 sisters with neutropenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene (PMID: 24777453). Of other four patients, one had biallelic null variants and presented with neutropenia and myelokathexis (PMID: 34854278). Others all had biallelic missense variants, and presented with neutropeniaCreated: 9 Oct 2023, 9:48 a.m. | Last Modified: 9 Oct 2023, 9:48 a.m.
Panel Version: 4.35
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?WHIM syndrome 2
Publications
Comment on list classification: New gene added by Zornitza Stark. Only a single family with variants in this gene and WHIM syndrome described to date. Rating Red until further evidence emerges.Created: 27 Jul 2021, 11:57 a.m. | Last Modified: 27 Jul 2021, 11:57 a.m.
Panel Version: 2.451
2 sisters with neutropaenia, myelokathexis, and recurrent bacterial infections and homozygous frameshift variant in this gene.
Sources: LiteratureCreated: 9 Jul 2021, 5:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WHIM syndrome 2 619407
Publications
Tag Q4_23_NHS_review tag was added to gene: CXCR2.
Gene: cxcr2 has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: CXCR2.
Phenotypes for gene: CXCR2 were changed from WHIM syndrome 2 619407 to WHIM syndrome 2, OMIM:619407
Gene: cxcr2 has been classified as Red List (Low Evidence).
gene: CXCR2 was added gene: CXCR2 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: CXCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CXCR2 were set to 24777453 Phenotypes for gene: CXCR2 were set to WHIM syndrome 2 619407 Review for gene: CXCR2 was set to RED